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Prenatal determination of uridine diphosphate galactose‐4‐epimerase activity
Author(s) -
Gillett M. G.,
Holton J. B.,
Macfaul R.
Publication year - 1983
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970030112
Subject(s) - uridine diphosphate , prenatal diagnosis , uridine , galactose , pregnancy , fetus , enzyme , galactosemia , enzyme deficiency , medicine , chemistry , endocrinology , biochemistry , biology , genetics , rna , gene
A prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose‐4‐epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an unaffected, heterozygous, fetus was correct.